Canonical Allele Identifier: CA440227727
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207803A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286649A>C , CM000666.2:g.80286649A>C GRCh38
NC_000004.11:g.81207803A>C , CM000666.1:g.81207803A>C GRCh37
NC_000004.10:g.81426827A>C NCBI36
NG_029501.1:g.25062A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.784A>C MANE Select ENSP00000311697.7:p.Arg262=
ENST00000312465.11:c.784A>C ENSP00000311697.7:p.Arg262=
ENST00000456523.3:c.*308A>C ENSP00000398353.3:n.*308A>C
ENST00000503413.1:n.733A>C
ENST00000507780.1:c.342+11637A>C ENSP00000423903.1:n.342+11637A>C
NM_001291812.1:c.355A>C NP_001278741.1:p.Arg119=
NM_004464.3:c.784A>C NP_004455.2:p.Arg262=
NM_033143.2:c.*308A>C NP_149134.1:n.*308A>C
NM_001291812.2:c.355A>C NP_001278741.1:p.Arg119=
NM_004464.4:c.784A>C MANE Select NP_004455.2:p.Arg262=